Canonical Allele Identifier: CA6543274
Gene: CCDC65 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.48917048A>G
GRCh37 chr12:g.49310831A>G
Revel Score:
ENST00000266984 0.023
ENST00000320516 (MANE Select) 0.023
gnomAD v2:
12:49310831 A / G
gnomAD v3:
12:48917048 A / G
gnomAD v4:
chr12-48917048-A-G
Joint Max Group AF 0.00320659 (AFR)
Genomes Max Group AF 0.00306988 (AFR)
Exomes Max Group AF 0.00306322 (AFR)
ClinVar RCV:
RCV000528922
ClinVar Variation:
474641
dbSNP:
140228766
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48917048A>G , CM000674.2:g.48917048A>G GRCh38
NC_000012.11:g.49310831A>G , CM000674.1:g.49310831A>G GRCh37
NC_000012.10:g.47597098A>G NCBI36
NG_033837.1:g.17939A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000320516.5:c.549A>G MANE Select ENSP00000312706.4:p.Ile183Met
ENST00000266984.9:c.549A>G ENSP00000266984.5:p.Ile183Met
ENST00000320516.4:c.549A>G ENSP00000312706.4:p.Ile183Met
ENST00000398092.4:c.385-13140T>C ENSP00000438507.1:n.385-13140T>C
ENST00000547861.5:c.*380A>G ENSP00000447157.1:n.*380A>G
ENST00000552942.5:c.301-1227A>G ENSP00000446569.1:n.301-1227A>G
NM_001286957.1:c.120A>G NP_001273886.1:p.Ile40Met
NM_033124.4:c.549A>G NP_149115.2:p.Ile183Met
XM_011538908.1:c.576A>G XP_011537210.1:p.Ile192Met
NM_033124.5:c.549A>G MANE Select NP_149115.2:p.Ile183Met
NM_001286957.2:c.120A>G NP_001273886.1:p.Ile40Met
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